Figure 7: Validation of SMAD3 and other candidate variants in GTEx eQTL database.
From: Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci

All SNPs associated with SMAD3 gene expression in whole blood (n=338) (a) and thyroid (n=278) (b) tissue, which span the entire 500-kb locus, were extracted from the GTEx V6 database, and –log(P values) were plotted using LocusZoom. SNPs are colour-coded by r2 value. Candidate SNP rs17293632 is shown in purple. Gene names are shown at genomic positions (hg19 assembly). (c) All SNPs associated with IL6R expression in whole blood (n=338) are shown. Candidate SNP rs7549250 is shown in purple. (d) All SNPs associated with BMP1 expression in aortic artery tissue (n=197) are shown. Candidate SNP rs73551707 is shown in purple.